Rabbit Anti-Otoferlin/FITC Conjugated antibody

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AUNB1; Deafness, autosomal recessive 9; DFNB6; DFNB9; Fer 1 like protein 2; Fer-1-like protein 2; FER1L2; NSRD9; Otof; OTOF_HUMAN; Otoferlin.

Cat:

SL17532R-FITC

Species Reactivity：

Mouse,Rat,(predicted: Human,Dog,Cow,Horse,)

Immunogen：

KLH conjugated synthetic peptide derived from human Otoferlin

Format：

Lyophilized or Liquid

Storage instructions：

Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

227kDa

Product Overview：

Blank control: Mouse bone marrow. Primary Antibody (green line): Rabbit Anti-DFNB9 antibody (SL17532R-FITC) Dilution: 2μg /10^6 cells; Isotype Control Antibody (orange line): Rabbit IgG . ProtocolThe cells were fixed with 4% PFA (10min at room temperature)and then permeabilized with PBST for 20 min at room temperature. The cells were then incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. Acquisition of 20,000 events was performed.

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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background:
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Function:
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes.

Subcellular Location:
Cytoplasmic vesicle > secretory vesicle > synaptic vesicle membrane. Basolateral cell membrane. Endoplasmic reticulum membrane. Cell membrane. Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs). Colocalizes with GPR25 and RAB8B in inner hair cells.

Tissue Specificity:
Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney.

DISEASE:
Defects in OTOF are the cause of deafness autosomal recessive type 9 (DFNB9) [MIM:601071]. DFNB9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Defects in OTOF are a cause of non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]. NSRAN is a form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases NSRAN phenotype can be temperature sensitive.

Similarity:
Belongs to the ferlin family.
Contains 4 C2 domains.

Database links:

Entrez Gene: 9381 Human

Entrez Gene: 83762 Mouse

Entrez Gene: 84573 Rat

Omim: 603681 Human

SwissProt: Q9HC10 Human

SwissProt: Q9ESF1 Mouse

SwissProt: Q9ERC5 Rat

Unigene: 91608 Human

Unigene: 244502 Mouse

Unigene: 223267 Rat

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. Picture

Blank control: Mouse bone marrow.
Primary Antibody (green line): Rabbit Anti-DFNB9 antibody (SL17532R-FITC)
Dilution: 2μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Protocol
The cells were fixed with 4% PFA (10min at room temperature)and then permeabilized with PBST for 20 min at room temperature. The cells were then incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. Acquisition of 20,000 events was performed.

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